Volume 39, Issue 2 pp. 136-141

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Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome

Mary F. Lachman,

Corresponding Author

Mary F. Lachman

Departments of Pathology, University of Connecticut Medical Center, Farmington, CT, USA

Department of Pathology Hartford Hospital 80 Seymour Street Hartford, CT 06115 USASearch for more papers by this author

Yvonne Wright,

Yvonne Wright

Departments of Pathology, University of Connecticut Medical Center, Farmington, CT, USA

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David A. H. Whiteman,

David A. H. Whiteman

Department of Pediatrics, Division of Human Genetics, University of Connecticut Medical Center, Farmington, CT, USA

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Victor Herson,

Victor Herson

Departments of Pediatrics, Hartford Hospital, Hartford, CT, University of Connecticut Medical Center, Farmington, CT, USA

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Robert M. Greenstein,

Robert M. Greenstein

Department of Pediatrics, Division of Human Genetics, University of Connecticut Medical Center, Farmington, CT, USA

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Mary F. Lachman,

Corresponding Author

Mary F. Lachman

Departments of Pathology, University of Connecticut Medical Center, Farmington, CT, USA

Department of Pathology Hartford Hospital 80 Seymour Street Hartford, CT 06115 USASearch for more papers by this author

Yvonne Wright,

Yvonne Wright

Departments of Pathology, University of Connecticut Medical Center, Farmington, CT, USA

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David A. H. Whiteman,

David A. H. Whiteman

Department of Pediatrics, Division of Human Genetics, University of Connecticut Medical Center, Farmington, CT, USA

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Victor Herson,

Victor Herson

Departments of Pediatrics, Hartford Hospital, Hartford, CT, University of Connecticut Medical Center, Farmington, CT, USA

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Robert M. Greenstein,

Robert M. Greenstein

Department of Pediatrics, Division of Human Genetics, University of Connecticut Medical Center, Farmington, CT, USA

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First published: February 1991

https://doi.org/10.1111/j.1399-0004.1991.tb03000.x

Citations: 21

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Abstract

A phenotypic female infant with Smith-Lemli-Opitz (SLO) syndrome was found to have a 46,XY karyotype. Autopsy showed normal testes for age and normal Wolffian duct structures. The serum testosterone level was unusually high, suggesting that the failure of virilization of the external genitalia in the child might be due to a defect in testosterone conversion to dihydrotestosterone or a lack of end-organ receptors for the same. An additional feature not previously described in association with SLO syndrome was present, which was clinical hypoglycemia with nesidioblastosis.

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Volume39, Issue2

February 1991

Pages 136-141

Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome

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Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome

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